ClinVar Miner

List of variants reported as pathogenic for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.3387G>A (p.Trp1129Ter) rs763165545
NM_015100.4(POGZ):c.1053del (p.Ser352fs) rs2529496737
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.125-1G>T rs1571533545
NM_015100.4(POGZ):c.1264_1265del (p.Lys422fs)
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer) rs869320763
NM_015100.4(POGZ):c.1463del (p.Pro488fs)
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1606dup (p.Tyr536fs) rs2529426630
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter) rs1553223544
NM_015100.4(POGZ):c.1673dup (p.Thr559fs) rs2529425105
NM_015100.4(POGZ):c.1679-1G>A rs2529281983
NM_015100.4(POGZ):c.1679-2A>G
NM_015100.4(POGZ):c.1725del (p.Leu576fs) rs2529281582
NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter) rs1135401798
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs) rs1553216467
NM_015100.4(POGZ):c.2002dup (p.Gln668fs) rs2529248224
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter) rs2529247930
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2162C>G (p.Ser721Ter) rs1398613872
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter) rs2529239509
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter) rs886041669
NM_015100.4(POGZ):c.2433-2A>T rs1653770239
NM_015100.4(POGZ):c.2505del (p.Phe836fs)
NM_015100.4(POGZ):c.2545+1G>C
NM_015100.4(POGZ):c.2545+1G>T rs2529222236
NM_015100.4(POGZ):c.2570+1G>T rs2102152727
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs) rs1553213060
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) rs2102150015
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer) rs2529211919
NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter) rs864321668
NM_015100.4(POGZ):c.2763del (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2768dup (p.His923fs) rs1653579916
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter) rs1557867134
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs) rs2529209786
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter) rs1557866540
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) rs2102147153
NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs) rs2529205949
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys) rs2102146729
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter) rs1557865787
NM_015100.4(POGZ):c.3192del (p.Phe1065fs)
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3351dup (p.Pro1118fs) rs2102145228
NM_015100.4(POGZ):c.3354del (p.Leu1119fs) rs864321667
NM_015100.4(POGZ):c.3360dup (p.Met1121fs) rs1653455584
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter) rs869312834
NM_015100.4(POGZ):c.460-1G>A rs1571464589
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015100.4(POGZ):c.529C>T (p.Gln177Ter)
NM_015100.4(POGZ):c.600dup (p.Gly201fs) rs2529507567
NM_015100.4(POGZ):c.615_616del (p.Phe206fs)
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter) rs1557910873
NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs) rs2529692681
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015100.4(POGZ):c.916C>T (p.Arg306Ter) rs1557909777

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